Variant report

Variant	rs1913465
Chromosome Location	chr4:128551177-128551178
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr4:128551027-128551332	K562	blood:	n/a	n/a
2	STAT5A	chr4:128550916-128551365	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128550419..128552212-chr4:128980083..128982522,2	K562	blood:
2	chr4:128547130..128549718-chr4:128550417..128553383,2	K562	blood:

Variant related genes	Relation type
INTU	TF binding region
ENSG00000138709	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10009032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10011964	1.00[AMR][1000 genomes]
rs10022669	1.00[AMR][1000 genomes]
rs10023183	1.00[AMR][1000 genomes]
rs10023194	1.00[AMR][1000 genomes]
rs10024724	1.00[AMR][1000 genomes]
rs10026828	1.00[AMR][1000 genomes]
rs10032340	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034548	1.00[AMR][1000 genomes]
rs10034679	1.00[AMR][1000 genomes]
rs13434829	1.00[AMR][1000 genomes]
rs17012567	1.00[AMR][1000 genomes]
rs28436595	1.00[AMR][1000 genomes]
rs28489758	1.00[AMR][1000 genomes]
rs28655300	1.00[AMR][1000 genomes]
rs28742883	1.00[AMR][1000 genomes]
rs28765108	1.00[AMR][1000 genomes]
rs28786410	1.00[AMR][1000 genomes]
rs4324559	1.00[AMR][1000 genomes]
rs4550948	1.00[AMR][1000 genomes]
rs9992298	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1800085	chr4:128502675-128557864	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879918	chr4:128543742-128694288	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv879919	chr4:128543742-128697519	Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128545200-128552400	Weak transcription	Psoas Muscle	Psoas
2	chr4:128545600-128553400	Weak transcription	Fetal Brain Male	brain
3	chr4:128548200-128552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:128548200-128553200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:128548200-128553400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:128550600-128551400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:128550600-128551400	Enhancers	K562	blood
8	chr4:128550800-128551400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:128550800-128553600	Weak transcription	Esophagus	oesophagus
10	chr4:128551000-128552600	Weak transcription	HUVEC	blood vessel
11	chr4:128551000-128552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:128551000-128553200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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